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hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Medical Definition

An autosomal recessive disorder caused by mutation(s) in the slc25a15 gene, encoding mitochondrial ornithine transporter 1. the condition is characterized by failure to thrive, liver dysfunction, psychomotor retardation, encephalopathy and seizures.
Related Codes (1)
Code
Description
Billable
Details
E72.4Disorders of ornithine metabolism
Type 1 Excludes (1)

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